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FLASH GENE
Symbol TFE3 contributors: mct - updated : 13-09-2016
HGNC name transcription factor binding to IGHM enhancer 3
HGNC id 11752
Location Xp11.23      Physical location : 48.886.241 - 48.900.990
Synonym name
  • renal cell carcinoma, papillary
  • transcription factor for IgH enhancer
  • Synonym symbol(s) RCCP2, TFEA, bHLHe33
    DNA
    TYPE functioning gene
    STRUCTURE 16.75 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure regulated through an E-box
    MAPPING cloned Y linked Y status confirmed
    Map pter - DXS1011E - SYP - TFE3 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3431 61.4 575 - 1991 1685140
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Respiratorylung   highly
     respiratory tractlarynx  highly
    Skeleton     
    Skin/Tegumentskin   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoclast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text ubiquitous
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DNA binding protein with basic helix- loop- helix and leucine zipper domains
  • myosin tail
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mitf
    ortholog to murine Tcfe3
    homolog to C.elegans F15C11.1
    intraspecies homolog to microphtalmia (MITF)
    homolog to TFEB
    Homologene
    FAMILY
  • MiT family of basic helix-loop-helix (BHLH) transcription factors
  • BHLH-ZIP subfamily
  • MiT/TFE family
  • CATEGORY regulatory , DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text different subcellular regulation of MITF and TFE3 may be due to the different roles that they play during osteoclast and macrophage differentiation
    basic FUNCTION
  • activator of transcription
  • transcriptionally activating hepatic IRS2, participating in insulin signaling and ameliorating diabetes
  • endogenous TFE3 and/or TFEB was required for endogenous CDH1 expression in embryonic kidney cells
  • TFE3 and TFEB are broadly expressed transcription factors related to the transcription factor MITF
  • TFE3 and TFEB are direct, physiological and mutually redundant activators of CD40LG expression in activated CD4(+) T cells critical for T cell-dependent antibody responses
  • involved in chromosomal translocations recurrent in different tumors and it plays, redundantly with MITF, an important role in the process of osteoclast formation, in particular during the transition from mono-nucleated to multi-nucleated osteoclasts
  • bHLH transcription factor that strongly activates various insulin signaling molecules, protecting against the development of insulin resistance and the metabolic syndrome
  • regulates the expression of MAFB during macrophage differentiation
  • regulator of mast cell functions
  • has a regulatory role in myoblast differentiation, and transcriptional suppression of MYOG expression may be part of the mechanism of action
  • transcription factor that binds to E-box motifs and promotes energy metabolism-related genes
  • regulates lipid metabolism by controlling the gene expression related to lipolysis and thermogenesis in adipose tissue
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • melanogenesis
  • activator of transcription
  • PATHWAY
    metabolism
    signaling
    a component
  • dimerization with another BHLH protein
  • INTERACTION
    DNA binding to IgH enhancer motif muE3 and to a USF/MLTF site
    RNA
    small molecule
    protein
  • activating of tyrosinase and TYRP1 promoter
  • IRS2, HK2 and INSIG1 are direct targets of TFE3
  • TFE3 and TFEC proteins may collaborate with MITF to efficiently regulate expression of target genes in osteoclasts
  • negatively regulated myogenin promoter activity by direct binding to an E-box, E2, in the MYOG promoter
  • directly integrates into the pluripotency circuitry through transcriptional regulation of ESRRB
  • directly binds to the insulin receptor substrate-2 promoter in the liver, resulting in increased insulin response
  • ASPSCR1-TFE3 fusion protein regulates cell cycle progression and induces cellular senescence by up-regulating CDKN1A expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    t(X;1) (p11.2;q21.2) and fused with PRCC in papillary renal cell carcinoma
    tumoral fusion translocation    
    t(X;17) (p11.2;q25) and fused with ASPSCR1 in alveolar soft part sarcoma
    tumoral fusion      
    with CLTC in t(X;17)(p11.2;q23) in renal adenocarcinoma
    tumoral fusion      
    ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC
    tumoral     --over  
    in clear cell (conventional) carcinoma and in some cases to papillary renal carcinoma
    constitutional     --over  
    during macrophage differentiation
    tumoral fusion      
    YAP1-TFE3 fusions in epithelioid hemangioendothelioma
    tumoral   translocation    
    with CAMTA1 in Epithelioid hemangioendotheliomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    could be a therapeutic target for diabetes
    ANIMAL & CELL MODELS
    combined inactivation of Tfe3 and Tfeb in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells